Sureda Gómez, MartaIaccarino, IngramBolòs, Anna deMeyer, MiekeBalsas, PatriciaRichter, JuliaRodríguez, Marta-LeonorLópez González, CristinaCarreras-Caballé, MariaGlaser, SelinaNadeu Prat, FerranJares Gerboles, PedroClot Razquin, GuillemSiciliano, Maria ChiaraBellan, CristinaTornambè, SalvatoreBoccacci, RobertoLeoncini, LorenzoCampo Güerri, EliasSiebert, ReinerAmador Espinosa, VirginiaKlapper, Wolfram2025-07-012025-07-012024-07-110006-4971https://hdl.handle.net/2445/221948SRY-related HMG-box gene 11 (SOX11) is a transcription factor overexpressed in mantle cell lymphoma (MCL), a subset of Burkitt lymphomas (BL) and precursor lymphoid cell neoplasms but is absent in normal B cells and other B-cell lymphomas. SOX11 has an oncogenic role in MCL but its contribution to BL pathogenesis remains uncertain. Here, we observed that the presence of Epstein-Barr virus (EBV) and SOX11 expression were mutually exclusive in BL. SOX11 expression in EBV-negative (EVB-) BL was associated with an IG∷MYC translocation generated by aberrant class switch recombination, whereas in EBV-negative (EBV-)/SOX11-negative (SOX11-) tumors the IG∷MYC translocation was mediated by mistaken somatic hypermutations. Interestingly, EBV- SOX11-expressing BL showed higher frequency of SMARCA4 and ID3 mutations than EBV-/SOX11- cases. By RNA sequencing, we identified a SOX11-associated gene expression profile, with functional annotations showing partial overlap with the SOX11 transcriptional program of MCL. Contrary to MCL, no differences on cell migration or B-cell receptor signaling were found between SOX11- and SOX11-positive (SOX11+) BL cells. However, SOX11+ BL showed higher adhesion to vascular cell adhesion molecule 1 (VCAM-1) than SOX11- BL cell lines. Here, we demonstrate that EBV- BL comprises 2 subsets of cases based on SOX11 expression. The mutual exclusion of SOX11 and EBV, and the association of SOX11 with a specific genetic landscape suggest a role of SOX11 in the early pathogenesis of BL.61 p.application/pdfeng(c) American Society of Hematology, 2024VirusDuplicació de l'ADNLimfomesFactors de transcripcióGenèticaVirusesDNA replicationLymphomasTranscription factorsGeneticsinfo:eu-repo/semantics/article7492092025-07-01info:eu-repo/semantics/openAccess943792838620074